VWA8

Summary

VWA8 (von Willebrand factor A domain containing 8, HGNC:29071) is a protein-coding gene on chromosome 13q14.11, encoding von Willebrand factor A domain-containing protein 8 (A3KMH1). Exhibits ATPase activity in vitro.

Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome.

Source: NCBI Gene 23078 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa 97 (Strong, GenCC)
• GWAS associations: 9
• Clinical variants (ClinVar): 229 total — 3 likely-pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_015058

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29071
Approved symbol	VWA8
Name	von Willebrand factor A domain containing 8
Location	13q14.11
Locus type	gene with protein product
Status	Approved
Aliases	P7BP2
Ensembl gene	ENSG00000102763
Ensembl biotype	protein_coding
OMIM	617509
Entrez	23078

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000281496, ENST00000379302, ENST00000379310, ENST00000478987, ENST00000886214, ENST00000938853, ENST00000941315, ENST00000941316

RefSeq mRNA: 2 — MANE Select: NM_015058 NM_001009814, NM_015058

CCDS: CCDS31963, CCDS41881

Canonical transcript exons

ENST00000379310 — 45 exons

Exon	Start	End
ENSE00000681027	41685047	41685242
ENSE00000681028	41689354	41689508
ENSE00000681067	41783795	41783901
ENSE00000681075	41819218	41819386
ENSE00000817222	41787437	41787543
ENSE00000907534	41675215	41675296
ENSE00000907535	41699071	41699270
ENSE00000907536	41701392	41701530
ENSE00000907537	41703303	41703411
ENSE00000907538	41719591	41719742
ENSE00000907539	41721370	41721575
ENSE00000907540	41727194	41727313
ENSE00000907541	41729542	41729677
ENSE00000907542	41732080	41732155
ENSE00000907543	41761128	41761204
ENSE00000907544	41777985	41778056
ENSE00000939537	41830529	41830642
ENSE00000939538	41816698	41816775
ENSE00000939539	41811225	41811340
ENSE00001001625	41570468	41570706
ENSE00001001629	41575740	41575838
ENSE00001001630	41590640	41590765
ENSE00001001632	41587512	41587670
ENSE00001001639	41885920	41886028
ENSE00001001641	41883387	41883491
ENSE00001146365	41605168	41605276
ENSE00001146376	41611576	41611732
ENSE00001146384	41614976	41615084
ENSE00001146395	41670946	41671147
ENSE00001182005	41868346	41868477
ENSE00001281865	41865736	41865813
ENSE00001376872	41887197	41887361
ENSE00001382748	41886781	41886830
ENSE00001386162	41907586	41907696
ENSE00001390891	41891420	41891587
ENSE00001480454	41960853	41961109
ENSE00001672863	41833371	41833531
ENSE00001858340	41566835	41568305
ENSE00003484197	41912038	41912168
ENSE00003484923	41691320	41691445
ENSE00003554976	41949936	41950013
ENSE00003588835	41865902	41866036
ENSE00003619495	41690166	41690275
ENSE00003668632	41691874	41691938
ENSE00003678728	41692862	41692972

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 95.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2473 / max 183.3407, expressed in 1789 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136989	15.2473	1789

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	95.49	gold quality
left ventricle myocardium	UBERON:0006566	95.35	gold quality
quadriceps femoris	UBERON:0001377	95.06	gold quality
biceps brachii	UBERON:0001507	94.86	gold quality
gluteal muscle	UBERON:0002000	94.31	gold quality
deltoid	UBERON:0001476	94.21	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.65	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.62	gold quality
skeletal muscle tissue	UBERON:0001134	93.17	gold quality
choroid plexus epithelium	UBERON:0003911	93.05	gold quality
pigmented layer of retina	UBERON:0001782	92.95	gold quality
retina	UBERON:0000966	92.93	gold quality
tibialis anterior	UBERON:0001385	92.62	gold quality
myocardium	UBERON:0002349	92.34	gold quality
endothelial cell	CL:0000115	92.23	gold quality
nephron tubule	UBERON:0001231	92.15	gold quality
heart right ventricle	UBERON:0002080	92.11	gold quality
triceps brachii	UBERON:0001509	92.05	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.97	gold quality
muscle tissue	UBERON:0002385	91.83	gold quality
parotid gland	UBERON:0001831	90.74	gold quality
kidney epithelium	UBERON:0004819	90.25	gold quality
lateral nuclear group of thalamus	UBERON:0002736	90.00	gold quality
muscle organ	UBERON:0001630	89.28	gold quality
skeletal muscle organ	UBERON:0014892	89.28	gold quality
metanephric glomerulus	UBERON:0004736	89.08	gold quality
renal glomerulus	UBERON:0000074	89.00	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.79	gold quality
body of tongue	UBERON:0011876	88.56	gold quality
pancreatic ductal cell	CL:0002079	88.55	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting VWA8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-92A-2-5P	99.75	67.01	2164

Literature-anchored findings (GeneRIF, showing 3)

• Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7) (PMID:30204880)
• A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2. (PMID:32027355)
• Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. (PMID:37012052)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	vwa8	ENSDARG00000078593
mus_musculus	Vwa8	ENSMUSG00000058997
rattus_norvegicus	Vwa8	ENSRNOG00000053145
drosophila_melanogaster	c12.2	FBGN0040234
caenorhabditis_elegans		WBGENE00008694

Protein

Protein identifiers

von Willebrand factor A domain-containing protein 8 — A3KMH1 (reviewed: A3KMH1)

Alternative names: PEX7-binding protein 2

All UniProt accessions (1): A3KMH1

UniProt curated annotations — full annotation on UniProt →

Function. Exhibits ATPase activity in vitro.

Subunit / interactions. Monomer. Isoform 1 and isoform 2 interact with PEX7. Isoform 2 interacts with isoform 1 of PEX5 in a PEX7-dependent manner.

Subcellular location. Mitochondrion Mitochondrion. Peroxisome.

Tissue specificity. In fetal eye, it is highly expressed in the retina while expression is low in the cornea, sclera and lens.

Disease relevance. Retinitis pigmentosa 97 (RP97) [MIM:620422] An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP97 is characterized by onset of night blindness and visual field defects in the first decade of life. The disease may be caused by variants affecting the gene represented in this entry.

Miscellaneous. AA 66-79 are essential for peroxisome localization.

Isoforms (3)

UniProt ID	Names	Canonical?
A3KMH1-1	1, P7BP2L	yes
A3KMH1-2	2, P7BP2S
A3KMH1-3	3

RefSeq proteins (2): NP_001009814, NP_055873* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR003593	AAA+_ATPase	Domain
IPR011704	ATPase_dyneun-rel_AAA	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR039891	VWA8	Family

Pfam: PF07728

UniProt features (22 total): sequence variant 8, glycosylation site 5, splice variant 2, region of interest 2, transit peptide 1, chain 1, domain 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A3KMH1-F1	79.24	0.17

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 447–454

Glycosylation sites (5): 1142, 1833, 284, 855, 1096

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): HAN_SATB1_TARGETS_DN, chr13q14, OSMAN_BLADDER_CANCER_DN, GOCC_MICROBODY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, STEIN_ESRRA_TARGETS_UP, MANALO_HYPOXIA_DN, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, LU_EZH2_TARGETS_DN, DELACROIX_RAR_BOUND_ES, ALKBH3_TARGET_GENES, ATF5_TARGET_GENES, BCL6B_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (4): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), peroxisome (GO:0005777)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
microbody	1

Protein interactions and networks

STRING

1406 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VWA8	CIBAR1	A1XBS5	600
VWA8	MTRF1	O75570	564
VWA8	SCRN1	Q12765	547
VWA8	CFAP276	Q5T5A4	501
VWA8	RTN4IP1	Q8WWV3	486
VWA8	NAA16	Q6N069	476
VWA8	WBP4	O75554	473
VWA8	MRPS31	Q92665	458
VWA8	CBR4	Q8N4T8	451
VWA8	PEX5	P50542	437
VWA8	NEK10	Q6ZWH5	433
VWA8	ADTRP	Q96IZ2	414
VWA8	ARMC12	Q5T9G4	414
VWA8	C1orf226	A1L170	413
VWA8	FCRL5	Q96RD9	408

IntAct

141 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
SMARCB1	VWA8	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NEFM	VWA8	psi-mi:“MI:0914”(association)	0.530
IDI1	VWA8	psi-mi:“MI:0915”(physical association)	0.400
MEGF10	VWA8	psi-mi:“MI:0915”(physical association)	0.370
SIRT4	VWA8	psi-mi:“MI:0914”(association)	0.350
LCA5	IFT56	psi-mi:“MI:0914”(association)	0.350
FASTKD3	VWA8	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
SMARCB1		psi-mi:“MI:0914”(association)	0.350
DND1	RPSA2	psi-mi:“MI:0914”(association)	0.350
BCL2L14		psi-mi:“MI:0914”(association)	0.350
CD74		psi-mi:“MI:0914”(association)	0.350
IRF2	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (393): VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Proximity Label-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS)

ESM2 similar proteins: A2C563, A3KMH1, A4FUD9, B0R0T1, B7K9M6, O14134, O48534, O60072, O94248, P0DUG1, P18708, P18759, P24487, P29458, P29551, P34732, P41389, P46459, P46460, P46461, P49739, P54351, Q09580, Q0E3C8, Q0WVF5, Q12019, Q1DKI1, Q26454, Q28BS0, Q3MEF4, Q46IJ6, Q5NBJ3, Q5R410, Q5T2N8, Q5YLB4, Q6DW73, Q75JI3, Q7ZXZ0, Q8CC88, Q8T5T1

Diamond homologs: A3KMH1, B0R0T1, Q8CC88, A0A1P8AUY4, A0AI71, A0Q2L0, A1U1Q2, A4IRH2, A4XTZ6, A5WC69, A6LT28, A6TM62, A7GTF1, A7Z7B2, A8EZR2, A8F2I3, A8G7G2, A8GPK1, A8GTC4, A8GVR9, B0BUW3, B0K532, B0KBA3, B0TFI7, B1VXA8, B2A159, B2FQR3, B2TPB8, B2UX12, B4SLN2, B7HEA4, B7HQN2, B7IIY3, B7JQ65, B8DHN7, B9IZ47, C0ZAG3, C1ETR8, C1L2H6, C3L704

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	6	9.4×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

229 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	164
Likely benign	11
Benign	7

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
617837	NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu)	Likely pathogenic
617838	NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter)	Likely pathogenic
617839	NM_015058.2(VWA8):c.3676-7T>C	Likely pathogenic

SpliceAI

4302 predictions. Top by Δscore:

Variant	Effect	Δscore
13:41719740:TTT:T	acceptor_gain	1.0000
13:41719743:C:CC	acceptor_gain	1.0000
13:41721366:CTAC:C	donor_loss	1.0000
13:41721369:C:CT	donor_loss	1.0000
13:41721571:ATCAC:A	acceptor_gain	1.0000
13:41721572:TCAC:T	acceptor_gain	1.0000
13:41721573:CAC:C	acceptor_gain	1.0000
13:41721573:CACC:C	acceptor_gain	1.0000
13:41721574:AC:A	acceptor_gain	1.0000
13:41721575:CC:C	acceptor_gain	1.0000
13:41721576:C:CC	acceptor_gain	1.0000
13:41761122:TCTTA:T	donor_loss	1.0000
13:41761123:CTTA:C	donor_loss	1.0000
13:41761124:TTACC:T	donor_loss	1.0000
13:41761125:TACCT:T	donor_loss	1.0000
13:41761126:ACCT:A	donor_loss	1.0000
13:41761127:C:CG	donor_loss	1.0000
13:41761201:CACC:C	acceptor_gain	1.0000
13:41761203:CC:C	acceptor_gain	1.0000
13:41761204:CC:C	acceptor_gain	1.0000
13:41778053:CATG:C	acceptor_gain	1.0000
13:41778057:C:CC	acceptor_gain	1.0000
13:41783789:TCTTA:T	donor_loss	1.0000
13:41783790:CTTA:C	donor_loss	1.0000
13:41783791:TTA:T	donor_loss	1.0000
13:41783792:TACC:T	donor_loss	1.0000
13:41783793:A:C	donor_loss	1.0000
13:41783794:C:CT	donor_loss	1.0000
13:41787431:ACTT:A	donor_loss	1.0000
13:41787432:CTT:C	donor_loss	1.0000

AlphaMissense

12476 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:41833471:A:G	W496R	1.000
13:41833471:A:T	W496R	1.000
13:41887294:G:T	A240D	1.000
13:41891484:C:A	R196I	1.000
13:41727222:G:C	F910L	0.999
13:41727222:G:T	F910L	0.999
13:41727224:A:G	F910L	0.999
13:41727240:A:C	N904K	0.999
13:41727240:A:T	N904K	0.999
13:41729613:A:T	V856D	0.999
13:41729625:G:T	A852D	0.999
13:41729627:T:A	K851N	0.999
13:41729627:T:G	K851N	0.999
13:41729628:T:A	K851I	0.999
13:41729629:T:C	K851E	0.999
13:41729629:T:G	K851Q	0.999
13:41729632:C:G	D850H	0.999
13:41729634:G:T	A849D	0.999
13:41729637:T:A	E848V	0.999
13:41729637:T:G	E848A	0.999
13:41729640:T:A	D847V	0.999
13:41729640:T:G	D847A	0.999
13:41729641:C:G	D847H	0.999
13:41732135:A:G	L816P	0.999
13:41732135:A:T	L816H	0.999
13:41761134:A:G	L807P	0.999
13:41761190:G:C	N788K	0.999
13:41761190:G:T	N788K	0.999
13:41761194:T:A	K787I	0.999
13:41777993:C:G	G781R	0.999

dbSNP variants (sampled 300 via entrez): RS1000005341 (13:41913485 C>T), RS1000012502 (13:41819119 A>G), RS1000013728 (13:41901013 C>T), RS1000021749 (13:41572695 C>T), RS1000027523 (13:41650187 T>C), RS1000035241 (13:41812343 G>A), RS1000036633 (13:41626910 T>C), RS1000077121 (13:41811711 G>A,C), RS1000078205 (13:41881209 C>T), RS1000083221 (13:41729180 T>C), RS1000096108 (13:41876992 A>G), RS1000123627 (13:41633661 A>G), RS1000127625 (13:41876364 TC>T), RS1000132035 (13:41946412 C>G), RS1000140293 (13:41636255 G>C)

Disease associations

OMIM: gene MIM:617509 | disease phenotypes: MIM:616840, MIM:620422

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 97	Strong	Autosomal dominant

Mondo (2): autosomal recessive early-onset Parkinson disease 23 (MONDO:0014796), retinitis pigmentosa 97 (MONDO:0957314)

Orphanet (1): Young-onset Parkinson disease (Orphanet:2828)

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000510	Rod-cone dystrophy
HP:0000608	Macular degeneration
HP:0000646	Amblyopia
HP:0000662	Nyctalopia
HP:0001089	Iris atrophy
HP:0003621	Juvenile onset
HP:0007663	Reduced visual acuity
HP:0011463	Childhood onset

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001198_27	Multiple sclerosis	4.000000e-06
GCST002198_11	Tuberculosis	5.000000e-06
GCST002201_6	Calcium levels	9.000000e-10
GCST002525_14	Local histogram emphysema pattern	1.000000e-08
GCST012489_153	Heel bone mineral density x serum urate levels interaction	4.000000e-08
GCST90002385_12	High light scatter reticulocyte count	5.000000e-16
GCST90002386_154	High light scatter reticulocyte percentage of red cells	3.000000e-16
GCST90002405_253	Reticulocyte count	8.000000e-14
GCST90002406_407	Reticulocyte fraction of red cells	4.000000e-14

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004838	calcium measurement
EFO:0005850	emphysema pattern measurement
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	5
bisphenol A	affects cotreatment, affects methylation, decreases expression, decreases methylation	2
entinostat	increases expression, affects cotreatment	2
bisphenol S	affects expression, increases methylation	2
Benzo(a)pyrene	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
quercitrin	decreases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol AF	increases expression	1
Fulvestrant	affects cotreatment, affects methylation, decreases methylation	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Cadmium	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Asbestos, Serpentine	increases methylation	1
Asbestos, Crocidolite	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.